Article
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
BMC medical genetics - 8 Aug 2018
Cannaerts Elyssa, Shukla Anju, Hasanhodzic Mensuda, Alaerts Maaike, Schepers Dorien, Van Laer Lut, Girisha Katta M, Hojsak Iva, Loeys Bart, Verstraeten Aline
Abstract excerpt
BACKGROUND: Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perinatal death. CASE PRESENTATION: We provide a genotype- and phenotype-oriented literature overview of FLNA hemizygous...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Connective Tissue
- Connective Tissue Diseases
- Ehlers-Danlos Syndrome
- Filamins
- Genes, X-Linked
- Genotype
- Humans
- Infant, Newborn
- Male